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rs111033563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a hemochromatosis variant
Make rs111033563(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position26092916
GeneHFE, LOC108783645
is asnp
is mentioned by
dbSNPrs111033563
dbSNP (classic)rs111033563
ClinGenrs111033563
ebirs111033563
HLIrs111033563
Exacrs111033563
Gnomadrs111033563
Varsomers111033563
LitVarrs111033563
Maprs111033563
PheGenIrs111033563
Biobankrs111033563
1000 genomesrs111033563
hgdprs111033563
ensemblrs111033563
geneviewrs111033563
scholarrs111033563
googlers111033563
pharmgkbrs111033563
gwascentralrs111033563
openSNPrs111033563
23andMers111033563
SNPshotrs111033563
SNPdbers111033563
MSV3drs111033563
GWAS Ctlgrs111033563
Max Magnitude3
OMIM613609
Desc
Variant0011
Relatedalso
ClinVar
Risk rs111033563(C;C)
Alt rs111033563(C;C)
Reference Rs111033563(A;A)
Significance Pathogenic
Disease Hemochromatosis type 1
Variation info
Gene HFE
CLNDBN Hemochromatosis type 1
Reversed 0
HGVS NC_000006.11:g.26093144A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000036.4,